DDHD2, DDHD domain containing 2, 23259

N. diseases: 37; N. variants: 11
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs375168720
rs375168720
0.882 0.120 8 38253642 missense variant G/C snv 6.0E-05 6.3E-05
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized
Nervous System Diseases 0.700 1.000 4 2012 2014